Identification of the BTN3A3 Gene as a Molecule Implicated in Generalized Pustular Psoriasis in a Chinese Population

Zhang, Qilin; Shi, Peidian; Wang, Zhenzhen; Sun, Lele; Li, Wenchao; Zhao, Qing; Liu, Tingting; Sun, Yulan; Jia, Fengming; Chen, Wenjie; Fu, Xi’an; Yu, Gongqi; Bao, Fangfang; Mi, Zihao; Wang, Chuan; Sun, Yonghu; Li, Bingqing; Li, Jianjun; Liu, Hong; Gu, Heng; Zhang, Furen

doi:10.1016/j.jid.2023.01.023

Cited by 6 publications

(2 citation statements)

References 51 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Previously, a correlation with HLA-C * 06:02 was observed in GPP patients with PV. [10], but its effects on the characteristic of psoriatic plaques have not been investigated. In this study, those without IL36RN mutation had thicker plaques and more vivid erythema, which might be a re ection of the increased IL-22 [11] and neoangiogenesis/vascular endothelial growth factor [12] in typical plaque type psoriasis.…”

Section: Discussionmentioning

confidence: 99%

Characteristics of co-existing psoriatic plaques in generalized pustular psoriasis patients with or without IL36RN mutation

Hsieh,

Chen,

Huang

et al. 2024

Preprint

View full text Add to dashboard Cite

Fewer than 5% patients with generalized pustular psoriasis (GPP) have clear or almost clear skin between GPP flare and 31 ~ 78% of patients present with co-existing psoriasis plaques. The erythema, thickness and scaling of co-existing psoriasis plaques in patients with GPP were assessed by two independent dermatologists who were unknown of IL36RN mutation status. Twenty IL36RN c.115 + 6T > C mutation positive patients and 20 mutation negative patients were included for paired analysis. We found that compared with IL36RN mutation negative group, more IL36RN mutation positive patients had erythema or thickness subscore ≦ 2 (p = 0.0407, 0.0202). The clinical, therapeutical and pathophysiological implications of the findings remain to be studied.

show abstract

Section: Discussionmentioning

confidence: 99%

Characteristics of co-existing psoriatic plaques in generalized pustular psoriasis patients with or without IL36RN mutation

Hsieh,

Chen,

Huang

et al. 2024

Preprint

View full text Add to dashboard Cite

show abstract

“…BTN3A3 belongs to the human butyrophilin (BTN) 3 family, which has the ability to activate the NF-κB pathway, resulting in an excessive inflammatory response by suppressing the expression of IL-36Ra. To investigate the molecular pathogenesis of GPP, Q. Zhang et al conducted a whole-exome sequencing study in the Chinese Han population [ 40 ]. However, the result found only two loci identified with exome-wide significance: the strongest one was in the IL36RN gene, and the other was located within the MHC region.…”

Section: Genetics Of Pustular Psoriasismentioning

confidence: 99%

Genetics of Generalized Pustular Psoriasis: Current Understanding and Implications for Future Therapeutics

Yang

Lin

Chou

et al. 2023

Genes

View full text Add to dashboard Cite

Psoriasis is a chronic inflammatory skin disease characterized by the appearance of clearly demarcated erythematous and scaly plaques. It can be divided into various types, including plaque, nail, guttate, inverse, and pustular psoriasis. Plaque psoriasis is the most commonly occurring type, though there is another rare but severe pustular autoinflammatory skin disease called generalized pustular psoriasis (GPP), which manifests with acute episodes of pustulation and systemic symptoms. Though the etiopathogenesis of psoriasis is not yet fully understood, a growing body of literature has demonstrated that both genetic and environmental factors play a role. The discovery of genetic mutations associated with GPP has shed light on our comprehension of the mechanisms of the disease, promoting the development of targeted therapies. This review will summarize genetic determinants as known and provide an update on the current and potential treatments for GPP. The pathogenesis and clinical presentation of the disease are also included for a comprehensive discussion.

show abstract

Genetic overlap and Mendelian randomization analysis highlighted the causal relationship between psoriatic disease and migraine

Tan,

Gou,

Lai

et al. 2024

Arch Dermatol Res

View full text Add to dashboard Cite

Identification of the BTN3A3 Gene as a Molecule Implicated in Generalized Pustular Psoriasis in a Chinese Population

Cited by 6 publications

References 51 publications

Characteristics of co-existing psoriatic plaques in generalized pustular psoriasis patients with or without IL36RN mutation

Characteristics of co-existing psoriatic plaques in generalized pustular psoriasis patients with or without IL36RN mutation

Genetics of Generalized Pustular Psoriasis: Current Understanding and Implications for Future Therapeutics

Genetic overlap and Mendelian randomization analysis highlighted the causal relationship between psoriatic disease and migraine

Contact Info

Product

Resources

About